WCMC logo
PMKB
  • WCMC logoPMKB
  • Genes
  • Variants
  • Interpretations
  • Tumor Types
  • Primary Sites
  • Activity
  • Login
PRPF40B
Variants
VariantGeneTypeCOSMIC IDDNA Change (Coding Nucleotide)Exon

Interpretations

Sort by
Page
Show

Tier 1
PRPF40B
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Myeloproliferative Neoplasm
Acute Myeloid Leukemia
Myelodysplastic Syndrome
Chronic Myelomonocytic Leukemia
Interpretation

PRPF40B is a member of the RNA splicing machinery which has been reported to be rarely mutated (less than 5%) among cases of acute myeloid leukemia, myelodysplasia, chronic myelomonocytic leukemia and myeloproliferative neoplasms. Mutations in PRPF40B are typically missense mutations that may be located throughout the gene. PRPF40B mutations tend to be exclusive of other mutations in the spliceosome pathway.

Last updated: 2016-06-05 01:08:34 UTC
Read More
PMKB Bot
  • Genes
  • Variants
  • Interpretations
  • Tumor Types
  • Primary Sites
  • Activity

Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


HELP
User Guide
Video Tutorial
INFO
About
Latest
API
Twitter
CONTACT US
Contact

Englander Institute for Precision Medicine
© Weill Cornell Medicine | Version 1.7.2Privacy PolicyTerms of use